Results 101 to 110 of about 56,492 (266)

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses

Prenatal Diagnosis, EarlyView.
Jade Ramini, Cumine van Tonder, Yolandi Swart, Kerry Rademan, Samantha Budhram, Lut Geerts, Shahida Moosa   +6 more
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Musculoskeletal health among adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the burden of, and investigate prognostic factors for, osteoarthritis, osteopenia and/or osteoporosis, spondylosis, and fracture, and to investigate the effectiveness of protocols for monitoring musculoskeletal disorders and interventions for managing osteoarthritis in adults with cerebral palsy (CP).
Jennifer M. Ryan, Jessica Burke, Rachel Byrne, Emily Capellari, Christina M Marciniak, Maram Sofiany, Reuel Jalal, Mark Peterson, The Adult CP Clinical Practice Guideline Working Group, Jan Willem Gorter, Ashley Harris Whaley, Christine Imms   +11 more
wiley   +1 more source

Safety strategies for everyday community physical activity by adults with cerebral palsy and high support needs: A qualitative case series

Developmental Medicine &Child Neurology, EarlyView.
Safety strategies used by adults with complex forms of cerebral palsy when participating in community‐based physical activity were explored in this study. Physical assistance was the main safety strategy in use, provided for four key purposes. The attributes of support people in community settings was key to experiences of safety.
Georgia B McKenzie, Stacey L Cleary, Freya E Munzel, Carlee Holmes, Prue E Morgan, Iain M Dutia, Nora Shields   +6 more
wiley   +1 more source

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

Preoperative Thoracolumbar Mobility (ΔTLK) Predicts Early Upper Instrumented Vertebra-Adjacent Fracture after Lower Thoracic-Pelvic Fusion in Elderly Patients with Adult Spinal Deformity

Spine Surgery and Related Research
Introduction: To determine whether preoperative thoracolumbar mobility predicts early upper instrumented vertebra-adjacent fracture (eUIVAF) after lower thoracic (LT)-pelvic fusion for adult spinal deformity (ASD) in elderly patients, in whom fracture ...
Shimei Tanida, Kazutaka Masamoto
doaj  

Neuropathic pain in cerebral palsy and related genetic conditions: A scoping review of prevalence, characteristics, and management

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map existing evidence on neuropathic pain in cerebral palsy (CP) and related genetic conditions, including prevalence, descriptors, assessment methods, and management. Method Following prospective registration, five databases (Ovid MEDLINE, Embase, CINAHL, Web of Science, Google Scholar) were searched in June 2025.
Aayushi Khillan, Sanya Verma, Hannah Yeomans, Karen Bau, Caitlin Doyle, Monica S. Cooper, David J. Amor, Carolyn Berryman, Adrienne Harvey   +8 more
wiley   +1 more source

Congenital Scoliosis [PDF]

Proceedings of the Royal Society of Medicine, 1930
openaire   +2 more sources